Incidental Mutation 'IGL02039:Fsip1'
ID184638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsip1
Ensembl Gene ENSMUSG00000027344
Gene Namefibrous sheath-interacting protein 1
Synonyms1700012M13Rik, 4933432K11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL02039
Quality Score
Status
Chromosome2
Chromosomal Location118130424-118256966 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118240414 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 265 (D265G)
Ref Sequence ENSEMBL: ENSMUSP00000155242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028820] [ENSMUST00000028821] [ENSMUST00000231133]
Predicted Effect probably benign
Transcript: ENSMUST00000028820
SMART Domains Protein: ENSMUSP00000028820
Gene: ENSMUSG00000027344

DomainStartEndE-ValueType
Pfam:FSIP1 4 203 1.2e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000028821
AA Change: D265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028821
Gene: ENSMUSG00000027344
AA Change: D265G

DomainStartEndE-ValueType
Pfam:FSIP1 4 405 5.9e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231133
AA Change: D265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,193 Y2313* probably null Het
Arhgef12 A G 9: 42,972,267 I1323T probably benign Het
C87436 A G 6: 86,453,695 M366V probably benign Het
Cep290 T C 10: 100,514,602 probably null Het
Cpsf3 T C 12: 21,301,456 M326T probably damaging Het
Cpxm2 A G 7: 132,047,753 V64A probably damaging Het
Csnka2ip G A 16: 64,478,594 S25F probably damaging Het
Cyfip1 T C 7: 55,875,021 F168L possibly damaging Het
Dhx8 T C 11: 101,764,027 probably null Het
Dnah2 T A 11: 69,499,212 I736F probably damaging Het
Erf T C 7: 25,244,544 E454G possibly damaging Het
Flnc T C 6: 29,450,719 V1482A probably benign Het
Fmn1 T C 2: 113,365,080 L375P unknown Het
Foxm1 T C 6: 128,369,360 Y85H probably damaging Het
Frem3 A G 8: 80,612,971 E631G probably damaging Het
Gprc5c C T 11: 114,864,486 Q330* probably null Het
Grin1 C T 2: 25,305,342 V246M probably damaging Het
Ifitm3 C A 7: 141,010,650 probably benign Het
Igdcc3 G A 9: 65,183,880 V648I probably benign Het
Ighv5-2 A G 12: 113,578,594 I87T probably benign Het
Imp4 G A 1: 34,443,768 probably null Het
Ino80 T C 2: 119,380,073 N1327D probably damaging Het
Kif5a T C 10: 127,233,867 I830V possibly damaging Het
Mgea5 A T 19: 45,773,703 V237E probably damaging Het
Muc5b A G 7: 141,871,164 Y4696C possibly damaging Het
Nrl T C 14: 55,522,110 E120G probably benign Het
Nsmaf T A 4: 6,424,995 probably benign Het
Nup35 T C 2: 80,642,775 M64T probably benign Het
Nxpe2 T A 9: 48,319,659 N470I probably benign Het
Olfr109 T A 17: 37,466,449 I81N possibly damaging Het
Olfr1502 C T 19: 13,862,719 Q309* probably null Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pitpnm1 A G 19: 4,105,032 T287A probably benign Het
Pkd2l2 G T 18: 34,435,368 probably null Het
Pola2 A T 19: 5,948,469 I355N probably damaging Het
Pp2d1 T A 17: 53,515,994 R15* probably null Het
Prpf40a T C 2: 53,144,803 D749G probably damaging Het
Rhoh T C 5: 65,892,638 S84P probably damaging Het
Slc12a7 T C 13: 73,809,094 probably null Het
Slc37a2 A G 9: 37,233,684 I454T probably damaging Het
Smarca2 A G 19: 26,716,137 D28G probably damaging Het
Socs4 T C 14: 47,290,193 I195T probably benign Het
Svep1 A G 4: 58,123,980 probably null Het
Thbd T C 2: 148,406,542 T469A probably benign Het
Thoc5 T C 11: 4,922,027 probably null Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn1r59 T C 7: 5,454,381 S127G probably benign Het
Vmn2r6 T C 3: 64,556,189 E408G probably damaging Het
Yars A T 4: 129,215,259 I428F probably damaging Het
Zglp1 T C 9: 21,067,039 E14G possibly damaging Het
Other mutations in Fsip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Fsip1 APN 2 118249912 missense possibly damaging 0.63
IGL01676:Fsip1 APN 2 118240384 splice site probably benign
IGL02337:Fsip1 APN 2 118251714 nonsense probably null
IGL02668:Fsip1 APN 2 118251725 missense probably benign 0.02
IGL03101:Fsip1 APN 2 118241663 missense probably damaging 1.00
IGL03155:Fsip1 APN 2 118251739 missense probably benign 0.06
R0045:Fsip1 UTSW 2 118248292 splice site probably null
R0045:Fsip1 UTSW 2 118248292 splice site probably null
R1225:Fsip1 UTSW 2 118248350 missense probably damaging 0.98
R1824:Fsip1 UTSW 2 118232908 missense probably damaging 0.98
R2048:Fsip1 UTSW 2 118241716 missense probably damaging 0.97
R2229:Fsip1 UTSW 2 118222444 missense probably benign 0.00
R3026:Fsip1 UTSW 2 118249903 missense probably benign 0.06
R3746:Fsip1 UTSW 2 118233050 missense probably damaging 0.98
R6275:Fsip1 UTSW 2 118205102 missense probably benign 0.06
R6395:Fsip1 UTSW 2 118236925 missense probably damaging 0.99
R6923:Fsip1 UTSW 2 118249913 missense probably benign 0.01
Posted On2014-05-07